Varaico: Literature-Extracted Genetic Variants

Gene:IL12B
Variant:p.S176delFs
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IL12B

NM_002187.3:p.S176delFs

Associated Papers

Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.

Khavandegar A et al.

The Journal of Allergy and Clinical Immunology, 2024

Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.

Rayzan E et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.

Ramaswamy S et al.

Journal of Personalized Medicine, 2022

35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.

Sharifinejad N et al.

Pediatric Rheumatology Online Journal, 2021

Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency.

Mahdaviani SA et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

Mahdaviani SA et al.

Journal of Clinical Immunology, 2020

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease.

Sarrafzadeh SA et al.

Journal of Clinical Immunology, 2019

A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.

Ben-Mustapha I et al.

Immunogenetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."